We present a case of aggressive angiomyxoma of the vulva. The patient presented with a persistent, enlarging vulvar mass, initially misdiagnosed as a Bartholin gland cyst. The patient underwent wide local excision, which resulted in total resection of the mass. Final pathology was consistent with aggressive angiomyxoma, a rare soft tissue tumor with a predilection for the female pelvis. Though rare, it is important to consider in the differential diagnosis of a pelvic mass, given the locally aggressive nature of this tumor and propensity for recurrence.
Highlights
Overall prognosis of uterine leiomyosarcoma (ULMS) is poor with a low 5-year survival rate.
Microsatellite instability (MSI)-high ULMS is not well documented in current literature.
Immune checkpoint inhibitors such as pembrolizumab have been shown to have good efficacy in treating MSI-high solid tumors.
Targeting MSI-high ULMS with pembrolizumab can potentially maintain a patient’s quality of life and extend overall survival.
Highlights
Use of immune checkpoint inhibitors in treatment of gynecologic malignancies is increasing.
Immune checkpoint inhibitors such as pembrolizumab may cause a variety of immune-related adverse effects.
Guillain-Barre Syndrome is a rare but potentially fatal adverse effect that requires prompt evaluation and treatment.
Summary
To investigate microRNA (miR) functions in early eye development, we asked whether eye field transcription factors (EFTFs) are targets of miR‐dependent regulation in Xenopus embryos. Argonaute (AGO) ribonucleoprotein complexes, including miRs and targeted mRNAs, were coimmunoprecipitated from transgenic embryos expressing myc‐tagged AGO under the control of the rax1 promoter; mRNAs for all EFTFs coimmunoprecipitated with Ago in late neurulae. Computational predictions of miR binding sites within EFTF 3′UTRs identified miR‐199a‐3p (“miR‐199”) as a candidate regulator of EFTFs, and miR‐199 was shown to regulate rax1 in vivo. Targeted overexpression of miR‐199 led to small eyes, a reduction in EFTF expression, and reduced cell proliferation. Inhibition of interactions between mir‐199 and the rax1 3′UTR reversed the small eye phenotype. Although targeted knockdown of miR‐199 left the eye field intact, it reduced optic cup outgrowth and disrupted eye formation. Computational identification of candidate miR‐199 targets within the Xenopus transcriptome led to the identification of ptk7 as a candidate regulator. Targeted overexpression of ptk7 resulted in abnormal optic cup formation and a reduction or loss of eye development, recapitulating the range of eye phenotypes seen following miR‐199 knockdown. Our results indicate that miR‐199 plays both positive and negative regulatory roles in eye development.
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